Canonical Allele Identifier: CA875174080

Gene: OTC

Linked Data

• dbSNP Id: rs1462338880
• MyVariant Identifiers: chrX:g.38262690_38262698del (hg19) ; chrX:g.38403437_38403445del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403437_38403445del , CM000685.2:g.38403437_38403445del	GRCh38
NC_000023.10:g.38262690_38262698del , CM000685.1:g.38262690_38262698del	GRCh37
NC_000023.9:g.38147634_38147642del	NCBI36
NG_008471.1:g.55955_55963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.541-181_541-173del MANE Select	ENSP00000039007.4:n.541-181_541-173del
ENST00000643344.1:c.*291-181_*291-173del	ENSP00000496606.1:n.*291-181_*291-173del
ENST00000039007.4:c.541-181_541-173del	ENSP00000039007.4:n.541-181_541-173del
ENST00000465127.1:c.172-262684_172-262676del	ENSP00000417050.1:n.172-262684_172-262676del
ENST00000488812.1:n.578-181_578-173del
NM_000531.5:c.541-181_541-173del	NP_000522.3:n.541-181_541-173del
XM_017029556.1:c.541-181_541-173del	XP_016885045.1:n.541-181_541-173del
NM_000531.6:c.541-181_541-173del MANE Select	NP_000522.3:n.541-181_541-173del